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Genetics & Molecular Task Force

Task force leaders

Mandy MacLean, United Kingdom

Nicholas Morrell, United Kingdom

Duncan Stewart, Canada

Type of task force

Disease & Speciality

Researching into the molecular mechanisms behind the pathobiology of pulmonary arterial hypertension (PAH) as it applies to cellular and animal models and their responses to therapeutic strategies

2019 Annual Report

The Genetic & Molecular Task Force held its 1st Symposium for the International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH), in Barcelona 2019, where over 140 delegates attended the inaugural PAH-ICON symposium.

The meeting consisted of two days of presentations by invited speakers in the field of genetics and genomics of pulmonary arterial hypertension. In addition, the meeting included oral and poster abstract presentations by investigators from around the world.

The audience learned about recent advances in PAH genetics, including the first announcement of three new genes underlying PAH. 

On the afternoon of the second day, the Consortium discussed aims and objectives for the coming year that would be best tackled by international collaboration and networking in this rapidly evolving field.

Several more specific sub-Task Forces were established, whereby international collaborators will work together around priority areas. It was agreed that the group will meet annually to share results and to enable further networking between PH and pulmonary vascular disease professionals.

Topics presented included:

  • Genetics of pulmonary arterial hypretension across the lifespan.
  • Common variant analysis in PAH.
  • RNA-sequencing of peripheral blood in PAH. 

Examples of Sub-Task Forces:

  • Genetics of Paediatric PAH.
  • ClinGen PAH Working Group, curating causal PAH mutations.
  • Functional Genomics Task Force.

Further work included:

  • Establishing an international registry of pulmonary veno-occlusive disease (PVOD) cases with mutations in the EIF2AK4 gene.
  • Follow up of healthy BMPR2 (protein receptor gene) mutation carriers.
  • Sequencing of BMPR2 negative PAH families.
  • Twin studies in pulmonary arterial hypertension.

Collaborative conclusions

It is clear that only international collaborations – which are capable of generating thousands of samples from patients with idiopathic and heritable pulmonary arterial hypertension – will have the statistical power to discover the complete genetic architecture of PAH.

It also only possible to address the major questions regarding the role of genetic variation in disease penetrance, phenotype and the clinical course of disease on this scale. The consortium aims to address these questions and continues to meet regularly by video conferencing to address these areas. 

At the meeting, there was a real sense that we can better address the major outstanding questions in our field by working together collaboratively for the benefit of patients, scientific discovery, and the search for new treatments. 

Further information

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